CV Science

Joceln Laporte PhD Molecular and Cellular Biology

Course and current status

1997: PhD, University Louis Pasteur-Strasbourg

1998-2003: Junior Researcher (CR2) INSERM; IGBMC Strasbourg (Dir. Pr P Chambon)

2003-2007: Senior Researcher (CR1) INSERM; IGBMC (Dir. Pr JL Mandel)

2004: Habilitation to direct research, University Louis Pasteur-Strasbourg

2008-present: Research director (DR2) INSERM; IGBMC (Dir. O Pourquié)

Scientific summary

Pathophysioology of neuromuscular diseases:

We study rare and severe neuromuscular disorders caused by mutations in proteins affecting organelles and membrane trafficking. Our principle focus is on three families of proteins that regulate or are regulated by membrane lipids: the phosphoinositide phosphatase myotubularins, the membrane remodelling amphiphysins and the membrane fissioning GTPase dynamins. Both myotubularins and dynamin 2 are mutated in centronuclear myopathies, severe congenital myopathies characterized by mislocalisation of nuclei and in Charcot-Marie-Tooth peripheral neuropathies, suggesting a common mechanism.
While focusing on these genetic diseases, our approaches are multidisciplinary and encompass the identification of the implicated genes by next generation sequencing, the study of the molecular and cellular functions of these proteins in cells and in C. elegans, the validation of mammalian disease models, and the use of viral vectors (AAVs) for pathophysiology studies and preclinical therapeutic trials. In parallel, we study the function of these proteins in skeletal muscle under normal and pathological conditions through the development of novel imaging methods (correlative microscopy and in vivo imaging) in close contact with our institute platforms.